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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Mucosal Immune Defence Gene Polymorphisms as Relevant Players in the Pathogenesis of IgA Vasculitis?
International Journal of Molecular Sciences, Volume 24, No. 17, Article 13063, Year 2023
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Description
ITGAM–ITGAX (rs11150612, rs11574637), VAV3 rs17019602, CARD9 rs4077515, DEFA (rs2738048, rs10086568), and HORMAD2 rs2412971 are mucosal immune defence polymorphisms, that have an impact on IgA production, described as risk loci for IgA nephropathy (IgAN). Since IgAN and Immunoglobulin-A vasculitis (IgAV) share molecular mechanisms, with the aberrant deposit of IgA1 being the main pathophysiologic feature of both entities, we assessed the potential influence of the seven abovementioned polymorphisms on IgAV pathogenesis. These seven variants were genotyped in 381 Caucasian IgAV patients and 997 matched healthy controls. No statistically significant differences were observed in the genotype and allele frequencies of these seven polymorphisms when the whole cohort of IgAV patients and those with nephritis were compared to controls. Similar genotype and allele frequencies of all polymorphisms were disclosed when IgAV patients were stratified according to the age at disease onset or the presence/absence of gastrointestinal or renal manifestations. Likewise, no ITGAM–ITGAX and DEFA haplotype differences were observed when the whole cohort of IgAV patients, along with those with nephritis and controls, as well as IgAV patients, stratified according to the abovementioned clinical characteristics, were compared. Our results suggest that mucosal immune defence polymorphisms do not represent novel genetic risk factors for IgAV pathogenesis. © 2023 by the authors.
Authors & Co-Authors
Batista-Liz, Joao Carlos
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Calvo-Río, Vanesa
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Sebastián Mora-Gil, María
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Sevilla Pérez, Belén
Spain, Granada
Hospital Universitario San Cecilio
Márquez, Ana
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Leonardo, Maria Teresa
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Peñalba, Ana
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Carmona, Francisco David
Spain, Granada
Universidad de Granada
Spain, Granada
Instituto de Investigación Biosanitaria Ibs.granada
Narváez, Javier A.
Spain, Barcelona
Hospital Universitari de Bellvitge
Martín-Penagos, Luis
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Belmar-Vega, Lara
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Gõmez-Fernández, Cristina
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Caminal-Montero, Luis
Spain, Oviedo
Instituto de Investigación Sanitaria Del Principado de Asturias
Collado, Paz
Spain, Leganes
Hospital Universitario Severo Ochoa
Quiroga-Colina, Patricia
Spain, Madrid
Hospital Universitario de la Princesa
Uriarte-Ecenarro, Miren
Spain, Madrid
Hospital Universitario de la Princesa
Rubio, Esteban Rabadán
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
León Luque, Manuel
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
Blanco-Madrigal, Juan María
Spain, Bilbao
Osakidetza, Basurto University Hospital
Galíndez Agirregoikoa, Eva
Spain, Bilbao
Osakidetza, Basurto University Hospital
Martin, Javier
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Castañeda, Santos
Spain, Madrid
Hospital Universitario de la Princesa
González-Gay, Miguel Ángel
Spain, Madrid
Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz
Spain, Santander
Universidad de Cantabria
Blanco-Alonso, Ricardo
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Pulito-Cueto, Verónica Bsc
Spain, Santander
Hospital Universitario Marqués de Valdecilla
López-Mejías, Raquel
Spain, Santander
Hospital Universitario Marqués de Valdecilla
Statistics
Citations: 1
Authors: 26
Affiliations: 13
Identifiers
Doi:
10.3390/ijms241713063
ISSN:
16616596
Research Areas
Genetics And Genomics
Study Design
Cohort Study